Home > Search Results: Hanna, M.G.
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UAB Digital Repository of Documents 3 records found  Search took 0.00 seconds. 
1.
13 p, 9.1 MB De novo KCNA6 variants with attenuated 1.6 channel deactivation in patients with epilepsy / Salpietro, Vincenzo (University of L'Aquila) ; Galassi Deforie, Valentina (University College London) ; Efthymiou, Stephanie (University College London) ; O'Connor, Emer (University College London) ; Marcé-Grau, Anna (Hospital Universitari Vall d'Hebron) ; Maroofian, Reza (University College London) ; Striano, Pasquale (Istituto "Giannina Gaslini") ; Zara, Federico (Istituto "Giannina Gaslini") ; Morrow, Michelle M. (GeneDx) ; Reich, Adi (GeneDx) ; Blevins, Amy (GeneDx) ; Sala-Coromina, Júlia (Hospital Universitari Vall d'Hebron) ; Accogli, Andrea (Istituto "Giannina Gaslini") ; Fortuna, Sara (Istituto Italiano di Tecnologia (IIT)) ; Alesandrini, Marie (Centre Hospitalier Universitaire Nantes) ; Au, P. Y. Billie (University of Calgary) ; Singhal, Nilika Shah (University of California) ; Cogne, Benjamin (L'Institut du Thorax) ; Isidor, Bertrand (L'Institut du Thorax) ; Hanna, Michael G. (National Hospital for Neurology and Neurosurgery) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ; Kullmann, Dimitri M. (University College London) ; Houlden, Henry (University College London) ; Männikkö, Roope (University College London) ; Universitat Autònoma de Barcelona
Mutations in the genes encoding neuronal ion channels are a common cause of Mendelian neurological diseases. We sought to identify novel de novo sequence variants in cases with early infantile epileptic phenotypes and neurodevelopmental anomalies. [...]
2022 - 10.1111/epi.17455
Epilepsia, Vol. 64 (december 2022) , p. 443-455  
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2.
7 p, 424.0 KB Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups / Rothwell, Simon (University of Manchester) ; Chinoy, Hector (Salford Royal NHS Foundation Trust) ; Lamb, Janine A. (The University of Manchester) ; Miller, Frederick W. (National Institute of Environmental Health Sciences) ; Rider, Lisa G. (National Institute of Environmental Health Sciences) ; Wedderburn, Lucy R. (University College London) ; McHugh, Neil J. (University of Bath) ; Mammen, Andrew L. (Johns Hopkins University School of Medicine) ; Betteridge, Zoe E. (University of Bath) ; Tansley, Sarah L. (Royal United Hospitals Bath NHS Foundation Trust) ; Bowes, John (The University of Manchester) ; Vencovský, Jiří (Charles University) ; Deakin, Claire T. (University College London) ; Dankó, Katalin (University of Debrecen) ; Vidya, Limaye (Royal Adelaide Hospital) ; Selva-O'Callaghan, Albert (Hospital Universitari Vall d'Hebron) ; Pachman, Lauren M. (Northwestern University, Feinberg School of Medicine) ; Reed, Ann M. (Duke University) ; Molberg, Øyvind (University of Oslo) ; Benveniste, Olivier (Pitié-Salpêtrière University Hospital) ; Mathiesen, Pernille R. (University of Copenhagen) ; Radstake, Timothy R. D. J. (Utrecht Medical Center) ; Doria, Andrea (Division of Rheumatology, University of Padova) ; De Bleecker, Jan (Ghent University) ; Lee, Annette T. (The Feinstein Institute for Medical Research) ; Hanna, M. G (University College London Institute of Neurology) ; Machado, Pedro M. (London North West University Healthcare NHS Trust) ; Ollier, William E. (Manchester Metropolitan University) ; Gregersen, Peter K. (The Feinstein Institute for Medical Research) ; Padyukov, Leonid (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; O'Hanlon, Terrance P. (National Institute of Environmental Health Sciences) ; Cooper, Robert G. (University of Liverpool) ; Lundberg, Ingrid E. (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Universitat Autònoma de Barcelona
Idiopathic inflammatory myopathies (IIM) are a spectrum of rare autoimmune diseases characterised clinically by muscle weakness and heterogeneous systemic organ involvement. The strongest genetic risk is within the major histocompatibility complex (MHC). [...]
2019 - 10.1136/annrheumdis-2019-215046
Annals of the rheumatic diseases, Vol. 78 (may 2019) , p. 996-1002  
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3.
2 p, 436.6 KB Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK / Figueroa Bonaparte, Sebastián (Institut d'Investigació Biomèdica Sant Pau) ; Hudson, J. (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Barresi, R. (Rare Diseases Advisory Group Service for Neuromuscular Diseases, Muscle Immunoanalysis Unit, Dental Hospital) ; Polvikoski, T. (Institute of Neuroscience, Newcastle University) ; Williams, T. (Royal Victoria Infirmary) ; Töpf, Ana (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Harris, E. (Newcastle University. Institute of Genetic Medicine) ; Hilton-Jones, D. (John Radcliffe Hospital (Oxford, Regne Unit)) ; Petty, R. (Southern General Hospital) ; Willis, T. A. (The Robert Jones and Agnes Hunt Orthopaedic Hospital) ; Longman, C. (Southern General Hospital) ; Dougan, C. F. (The Walton Centre for Neurology and Neurosurgery) ; Parton, M. J. (UCL MRC Centre for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery) ; Hanna, M. G. (MRC Centre for Neuromuscular Disease and National Hospital for Neurology and Neurosurgery) ; Quinlivan, Ros (UCL MRC Centre for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery) ; Farrugia, M. E. (Southern General Hospital) ; Guglieri, M. (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Bushby, Kate (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Straub, Volker (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Lochmüller, H. (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Evangelista, T. (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ; Universitat Autònoma de Barcelona
2015 - 10.1136/jnnp-2015-310362
Journal of Neurology, Neurosurgery, and Psychiatry, Vol. 87 (june 2015) , p. 680-681  
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See also: similar author names
2 Hanna, M.
1 Hanna, M. G
1 Hanna, M. G.
1 Hanna, Megan E.
1 Hanna, Michael
2 Hanna, Michael G.
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